| Year |
Citation |
Score |
| 2020 |
Cauley ES, Pittman A, Mummidivarpu S, Karimiani EG, Martinez S, Moroni I, Boostani R, Podini D, Mora M, Jamshidi Y, Hoffman EP, Manzini MC. Novel mutation identification and copy number variant detection via exome sequencing in congenital muscular dystrophy. Molecular Genetics & Genomic Medicine. e1387. PMID 32936536 DOI: 10.1002/Mgg3.1387 |
0.493 |
|
| 2020 |
Del Caño-Ochoa F, Ng BG, Abedalthagafi M, Almannai M, Cohn RD, Costain G, Elpeleg O, Houlden H, Karimiani EG, Liu P, Manzini MC, Maroofian R, Muriello M, Al-Otaibi A, Patel H, et al. Cell-based analysis of CAD variants identifies individuals likely to benefit from uridine therapy. Genetics in Medicine : Official Journal of the American College of Medical Genetics. PMID 32461667 DOI: 10.1038/s41436-020-0833-2 |
0.349 |
|
| 2020 |
Saredi S, Cauley ES, Ruggieri A, Spivey TM, Ardissone A, Mora M, Moroni I, Manzini MC. Myopathic changes associated with psychomotor delay and seizures caused by a novel homozygous mutation in TBCK. Muscle & Nerve. 62: 266-271. PMID 32363625 DOI: 10.1002/mus.26907 |
0.471 |
|
| 2020 |
Manzini MC, Mossa A, Choi S, Nemes P. Male-Specific Intracellular Signaling in Sex-Bias in Neurodevelopmental Disorders Biological Psychiatry. 87: S65-S66. DOI: 10.1016/J.Biopsych.2020.02.189 |
0.325 |
|
| 2019 |
Mossa A, Manzini MC. Molecular causes of sex-specific deficits in rodent models of neurodevelopmental disorders. Journal of Neuroscience Research. PMID 31872500 DOI: 10.1002/jnr.24577 |
0.385 |
|
| 2019 |
Lee S, Chen DY, Zaki MS, Maroofian R, Houlden H, Di Donato N, Abdin D, Morsy H, Mirzaa GM, Dobyns WB, McEvoy-Venneri J, Stanley V, James KN, Mancini GMS, Schot R, ... ... Manzini MC, et al. Bi-allelic Loss of Human APC2, Encoding Adenomatous Polyposis Coli Protein 2, Leads to Lissencephaly, Subcortical Heterotopia, and Global Developmental Delay. American Journal of Human Genetics. 105: 844-853. PMID 31585108 DOI: 10.1016/J.Ajhg.2019.08.013 |
0.607 |
|
| 2019 |
Cauley ES, Hamed A, Mohamed IN, Elseed M, Martinez S, Yahia A, Abozar F, Abubakr R, Koko M, Elsayed L, Piao X, Salih MA, Manzini MC. Overlap of polymicrogyria, hydrocephalus, and Joubert syndrome in a family with novel truncating mutations in ADGRG1/GPR56 and KIAA0556. Neurogenetics. 20: 91-98. PMID 30982090 DOI: 10.1007/S10048-019-00577-2 |
0.509 |
|
| 2019 |
Nabais Sá MJ, Jensik PJ, McGee SR, Parker MJ, Lahiri N, McNeil EP, Kroes HY, Hagerman RJ, Harrison RE, Montgomery T, Splitt M, Palmer EE, Sachdev RK, Mefford HC, Scott AA, ... ... Manzini MC, et al. De novo and biallelic DEAF1 variants cause a phenotypic spectrum. Genetics in Medicine : Official Journal of the American College of Medical Genetics. PMID 30923367 DOI: 10.1038/s41436-019-0473-6 |
0.421 |
|
| 2018 |
Zamarbide M, Mossa A, Muñoz-Llancao P, Wilkinson MK, Pond HL, Oaks AW, Manzini MC. Male-Specific cAMP Signaling in the Hippocampus Controls Spatial Memory Deficits in a Mouse Model of Autism and Intellectual Disability. Biological Psychiatry. PMID 30732858 DOI: 10.1016/J.Biopsych.2018.12.013 |
0.758 |
|
| 2018 |
Zamarbide M, Oaks AW, Pond HL, Adelman JS, Manzini MC. Loss of the Intellectual Disability and Autism Geneand Its HomologDifferentially Affect Spatial Memory, Anxiety, and Hyperactivity. Frontiers in Genetics. 9: 65. PMID 29552027 DOI: 10.3389/Fgene.2018.00065 |
0.795 |
|
| 2017 |
Choi SB, Lombard-Banek C, Muñoz-LLancao P, Manzini MC, Nemes P. Enhanced Peptide Detection Toward Single-Neuron Proteomics by Reversed-Phase Fractionation Capillary Electrophoresis Mass Spectrometry. Journal of the American Society For Mass Spectrometry. PMID 29147852 DOI: 10.1007/S13361-017-1838-1 |
0.302 |
|
| 2017 |
Vahid-Ansari F, Daigle M, Manzini MC, Tanaka KF, Hen R, Geddes SD, Béïque JC, James J, Merali Z, Albert PR. Abrogated Freud-1/CC2D1A repression of 5-HT1A autoreceptors induces fluoxetine-resistant anxiety/depression-like behavior. The Journal of Neuroscience : the Official Journal of the Society For Neuroscience. PMID 29101244 DOI: 10.1523/Jneurosci.1668-17.2017 |
0.276 |
|
| 2017 |
Osborn DP, Pond HL, Mazaheri N, Dejardin J, Munn CJ, Mushref K, Cauley ES, Moroni I, Pasanisi MB, Sellars EA, Hill RS, Partlow JN, Willaert RK, Bharj J, Malamiri RA, ... ... Manzini MC, et al. Mutations in INPP5K Cause a Form of Congenital Muscular Dystrophy Overlapping Marinesco-Sjögren Syndrome and Dystroglycanopathy. American Journal of Human Genetics. PMID 28190459 DOI: 10.1016/j.ajhg.2017.01.019 |
0.509 |
|
| 2017 |
Maynard TM, Manzini MC. Balancing Act: Maintaining Amino Acid Levels in the Autistic Brain. Neuron. 93: 476-479. PMID 28182903 DOI: 10.1016/J.Neuron.2017.01.015 |
0.361 |
|
| 2016 |
Chahrour M, O'Roak BJ, Santini E, Samaco RC, Kleiman RJ, Manzini MC. Current Perspectives in Autism Spectrum Disorder: From Genes to Therapy. The Journal of Neuroscience : the Official Journal of the Society For Neuroscience. 36: 11402-11410. PMID 27911742 DOI: 10.1523/Jneurosci.2335-16.2016 |
0.754 |
|
| 2016 |
Choi SB, Zamarbide M, Manzini MC, Nemes P. Tapered-Tip Capillary Electrophoresis Nano-Electrospray Ionization Mass Spectrometry for Ultrasensitive Proteomics: the Mouse Cortex. Journal of the American Society For Mass Spectrometry. PMID 27853976 DOI: 10.1007/S13361-016-1532-8 |
0.72 |
|
| 2016 |
Oaks AW, Zamarbide M, Tambunan DE, Santini E, Di Costanzo S, Pond HL, Johnson MW, Lin J, Gonzalez DM, Boehler JF, Wu GK, Klann E, Walsh CA, Manzini MC. Cc2d1a Loss of Function Disrupts Functional and Morphological Development in Forebrain Neurons Leading to Cognitive and Social Deficits. Cerebral Cortex (New York, N.Y. : 1991). PMID 26826102 DOI: 10.1093/Cercor/Bhw009 |
0.73 |
|
| 2016 |
Ardiccioni C, Clarke OB, Tomasek D, Issa HA, von Alpen DC, Pond HL, Banerjee S, Rajashankar KR, Liu Q, Guan Z, Li C, Kloss B, Bruni R, Kloppmann E, Rost B, ... Manzini MC, et al. Structure of the polyisoprenyl-phosphate glycosyltransferase GtrB and insights into the mechanism of catalysis. Nature Communications. 7: 10175. PMID 26729507 DOI: 10.1038/Ncomms10175 |
0.287 |
|
| 2014 |
Manzini MC, Xiong L, Shaheen R, Tambunan DE, Di Costanzo S, Mitisalis V, Tischfield DJ, Cinquino A, Ghaziuddin M, Christian M, Jiang Q, Laurent S, Nanjiani ZA, Rasheed S, Hill RS, et al. CC2D1A regulates human intellectual and social function as well as NF-κB signaling homeostasis. Cell Reports. 8: 647-55. PMID 25066123 DOI: 10.1016/j.celrep.2014.06.039 |
0.757 |
|
| 2014 |
Di Costanzo S, Balasubramanian A, Pond HL, Rozkalne A, Pantaleoni C, Saredi S, Gupta VA, Sunu CM, Yu TW, Kang PB, Salih MA, Mora M, Gussoni E, Walsh CA, Manzini MC. POMK mutations disrupt muscle development leading to a spectrum of neuromuscular presentations. Human Molecular Genetics. 23: 5781-92. PMID 24925318 DOI: 10.1093/hmg/ddu296 |
0.763 |
|
| 2013 |
Stevens E, Carss KJ, Cirak S, Foley AR, Torelli S, Willer T, Tambunan DE, Yau S, Brodd L, Sewry CA, Feng L, Haliloglu G, Orhan D, Dobyns WB, Enns GM, ... ... Manzini MC, et al. Mutations in B3GALNT2 cause congenital muscular dystrophy and hypoglycosylation of α-dystroglycan. American Journal of Human Genetics. 92: 354-65. PMID 23453667 DOI: 10.1016/J.Ajhg.2013.01.016 |
0.791 |
|
| 2012 |
Manzini MC, Tambunan DE, Hill RS, Yu TW, Maynard TM, Heinzen EL, Shianna KV, Stevens CR, Partlow JN, Barry BJ, Rodriguez J, Gupta VA, Al-Qudah AK, Eyaid WM, Friedman JM, et al. Exome sequencing and functional validation in zebrafish identify GTDC2 mutations as a cause of Walker-Warburg syndrome. American Journal of Human Genetics. 91: 541-7. PMID 22958903 DOI: 10.1016/J.Ajhg.2012.07.009 |
0.786 |
|
| 2012 |
Gupta VA, Kawahara G, Myers JA, Chen AT, Hall TE, Manzini MC, Currie PD, Zhou Y, Zon LI, Kunkel LM, Beggs AH. A splice site mutation in laminin-α2 results in a severe muscular dystrophy and growth abnormalities in zebrafish. Plos One. 7: e43794. PMID 22952766 DOI: 10.1371/Journal.Pone.0043794 |
0.461 |
|
| 2012 |
Marangi G, Orteschi D, Vigevano F, Felie J, Walsh CA, Manzini MC, Neri G. Expanding the spectrum of rearrangements involving chromosome 19: a mild phenotype associated with a 19p13.12-p13.13 deletion. American Journal of Medical Genetics. Part A. 158: 888-93. PMID 22419660 DOI: 10.1002/ajmg.a.35254 |
0.569 |
|
| 2011 |
Di Blasi C, Bellafiore E, Salih MA, Manzini MC, Moore SA, Seidahmed MZ, Mukhtar MM, Karrar ZA, Walsh CA, Campbell KP, Mantegazza R, Morandi L, Mora M. Variable disease severity in Saudi Arabian and Sudanese families with c.3924 + 2 T > C mutation of LAMA2. Bmc Research Notes. 4: 534. PMID 22166137 DOI: 10.1186/1756-0500-4-534 |
0.588 |
|
| 2011 |
Labelle-Dumais C, Dilworth DJ, Harrington EP, de Leau M, Lyons D, Kabaeva Z, Manzini MC, Dobyns WB, Walsh CA, Michele DE, Gould DB. COL4A1 mutations cause ocular dysgenesis, neuronal localization defects, and myopathy in mice and Walker-Warburg syndrome in humans. Plos Genetics. 7: e1002062. PMID 21625620 DOI: 10.1371/Journal.Pgen.1002062 |
0.669 |
|
| 2011 |
Manzini MC, Walsh CA. What disorders of cortical development tell us about the cortex: one plus one does not always make two. Current Opinion in Genetics & Development. 21: 333-9. PMID 21288712 DOI: 10.1016/j.gde.2011.01.006 |
0.533 |
|
| 2010 |
Manzini MC, Rajab A, Maynard TM, Mochida GH, Tan WH, Nasir R, Hill RS, Gleason D, Al Saffar M, Partlow JN, Barry BJ, Vernon M, LaMantia AS, Walsh CA. Developmental and degenerative features in a complicated spastic paraplegia. Annals of Neurology. 67: 516-25. PMID 20437587 DOI: 10.1002/Ana.21923 |
0.613 |
|
| 2010 |
Manzini M, Mitsialis V, Tischfield D. [P2.12]: The role of CC2D1A in the aetiology of intellectual disability International Journal of Developmental Neuroscience. 28: 689-689. DOI: 10.1016/j.ijdevneu.2010.07.142 |
0.241 |
|
| 2009 |
Lee HY, Greene LA, Mason CA, Manzini MC. Isolation and culture of post-natal mouse cerebellar granule neuron progenitor cells and neurons. Journal of Visualized Experiments : Jove. PMID 19229177 DOI: 10.3791/990 |
0.574 |
|
| 2009 |
Manzini M, Gleason D, Chang B, Hill R, Partlow J, Barry B, Poduri A, Basel-Vanagaite L, Seidhamed M, Salih M, Dobyns W, Walsh C. EM.P.2.04 Unraveling the genetic complexity of alpha-dystroglycanopathies: Ethnically diverse pathogenic mutations Neuromuscular Disorders. 19: 552-553. DOI: 10.1016/J.Nmd.2009.06.033 |
0.527 |
|
| 2008 |
Manzini MC, Gleason D, Chang BS, Hill RS, Barry BJ, Partlow JN, Poduri A, Currier S, Galvin-Parton P, Shapiro LR, Schmidt K, Davis JG, Basel-Vanagaite L, Seidahmed MZ, Salih MA, et al. Ethnically diverse causes of Walker-Warburg syndrome (WWS): FCMD mutations are a more common cause of WWS outside of the Middle East. Human Mutation. 29: E231-41. PMID 18752264 DOI: 10.1002/Humu.20844 |
0.775 |
|
| 2008 |
Teber S, Sezer T, Kafali M, Manzini MC, Konuk Yüksel B, Tekin M, Fitöz S, Walsh CA, Deda G. Severe muscle-eye-brain disease is associated with a homozygous mutation in the POMGnT1 gene. European Journal of Paediatric Neurology : Ejpn : Official Journal of the European Paediatric Neurology Society. 12: 133-6. PMID 17881266 DOI: 10.1016/j.ejpn.2007.06.008 |
0.621 |
|
| 2007 |
Rajab A, Manzini MC, Mochida GH, Walsh CA, Ross ME. A novel form of lethal microcephaly with simplified gyral pattern and brain stem hypoplasia. American Journal of Medical Genetics. Part A. 143: 2761-7. PMID 17975804 DOI: 10.1002/ajmg.a.31955 |
0.541 |
|
| 2007 |
Manzini MC, Joseph DJ, MacDermott AB, Mason CA. Differential effects of AMPA receptor activation on survival and neurite integrity during neuronal development. Molecular and Cellular Neurosciences. 35: 328-38. PMID 17478096 DOI: 10.1016/J.Mcn.2007.03.010 |
0.537 |
|
| 2006 |
Manzini MC, Ward MS, Zhang Q, Lieberman MD, Mason CA. The stop signal revised: immature cerebellar granule neurons in the external germinal layer arrest pontine mossy fiber growth. The Journal of Neuroscience : the Official Journal of the Society For Neuroscience. 26: 6040-51. PMID 16738247 DOI: 10.1523/Jneurosci.4815-05.2006 |
0.691 |
|
| 2004 |
Bione S, Rizzolio F, Sala C, Ricotti R, Goegan M, Manzini MC, Battaglia R, Marozzi A, Vegetti W, Dalprà L, Crosignani PG, Ginelli E, Nappi R, Bernabini S, Bruni V, et al. Mutation analysis of two candidate genes for premature ovarian failure, DACH2 and POF1B. Human Reproduction (Oxford, England). 19: 2759-66. PMID 15459172 DOI: 10.1093/humrep/deh502 |
0.407 |
|
| 2001 |
Lee CJ, Kong H, Manzini MC, Albuquerque C, Chao MV, MacDermott AB. Kainate receptors expressed by a subpopulation of developing nociceptors rapidly switch from high to low Ca2+ permeability. The Journal of Neuroscience : the Official Journal of the Society For Neuroscience. 21: 4572-81. PMID 11425885 DOI: 10.1523/Jneurosci.21-13-04572.2001 |
0.253 |
|
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